Variant report

Variant	rs8004263
Chromosome Location	chr14:63500214-63500215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1007062	0.87[CEU][hapmap]
rs10129513	0.87[CEU][hapmap];0.89[CHB][hapmap]
rs10132214	0.82[CHB][hapmap]
rs10133358	0.87[CEU][hapmap]
rs10141458	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs10146400	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158468	0.87[CEU][hapmap]
rs11158469	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs11624884	0.86[CEU][hapmap]
rs12587142	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs12587171	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs1950987	0.81[ASW][hapmap];0.87[CEU][hapmap];0.81[MEX][hapmap];0.80[AMR][1000 genomes]
rs1950988	0.87[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1950989	0.87[CEU][hapmap]
rs1956673	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs1956675	0.85[AMR][1000 genomes]
rs28376422	0.81[ASN][1000 genomes]
rs3906693	0.93[CEU][hapmap]
rs3910327	0.87[CEU][hapmap];0.85[AMR][1000 genomes]
rs3910329	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs4609762	0.85[AMR][1000 genomes]
rs5010674	0.87[CEU][hapmap]
rs5010675	0.92[CEU][hapmap]
rs5010676	0.86[CEU][hapmap]
rs61995096	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573475	0.87[CEU][hapmap]
rs6573476	0.81[ASW][hapmap];0.87[CEU][hapmap];0.81[MEX][hapmap]
rs6573477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141489	0.80[ASN][1000 genomes]
rs7154634	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs7156008	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs7159948	0.87[CEU][hapmap]
rs717059	0.87[CEU][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes]
rs8005258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018212	0.87[CEU][hapmap]
rs8021399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021914	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8004263	ACTR10	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63497400-63502800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:63499800-63507000	Weak transcription	Hela-S3	cervix

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